日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

134种生殖系PU.1变异体及其携带者的无丙种球蛋白血症患者

Knox, Ainsley V C; Cominsky, Lauren Y; Sun, Di; Cruz Cabrera, Emylette; Nolan, Brian E; Ofray, Edann; Benetti, Elisa; Visconti, Camilla; Barzaghi, Federica; Rosenzweig, Sergio D; Lawrence, Monica G; Sullivan, Kathleen E; Yoon, Samuel; Rachimi, Suzanna; Padem, Nurcicek; Conboy, Erin; Stojanovic, Maja; Petrovic, Gordana; Pasic, Srdjan; Church, Joseph; Ferdman, Ronald M; Candotti, Fabio; Arlabosse, Tiphaine; Theodoropoulou, Katerina; Dutmer, Cullen M; Maródi, László; Szücs, Gabriella; Broides, Arnon; Nahum, Amit; Levy, Jacov; Kettunen, Kaisa; Daddali, Ravindra; Seppänen, Mikko; Vänttinen, Markku; Martelius, Timi; Grönholm, Juha; Peri, Matilde; Azzari, Chiara; Ricci, Silvia; Ojaimi, Samar; Edwards, Emily S J; van Zelm, Menno C; Sun, Jinqiao; Abolhassani, Hassan; Pan-Hammarström, Qiang; Hakonarson, Hakon; Mayr, Daniel; Boztug, Kaan; Boisson, Bertrand; Casanova, Jean-Laurent; Le Coz, Carole; Poon, Gregory M K; Romberg, Neil

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

原发性纤毛运动障碍或活化磷脂酰肌醇3-激酶δ综合征患者的重叠临床表型

Shapiro, Adam J; Wu, Eveline Y; Morris-Rosendahl, Deborah J; Olivier, Kenneth N; Dell, Sharon D; Sagel, Scott D; Dutmer, Cullen M; Mosquera, Ricardo A; Rose, Markus; O'Connor, Michael G; Ma, Chi A; Uzel, Gulbu; Vece, Timothy J; Zariwala, Maimoona A; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas W

Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency

RAG1/2缺陷中抗IFN-α自身抗体的相关因素及动力学

Wang, Chen; Potts, David Evan; Sun, Bijun; Toth, Marta; Ujhazi, Boglarka; Sharapova, Svetlana; Miller, Rahim; Rosen, Lindsey; Yilmaz, Melis; Larsen, Kellie; Delmonte, Ottavia M; Poskitt, Laura E; Allenspach, Eric J; de la Morena, Maria Teresa; Ward, Brant R; Hernandez, Joseph D; Geier, Christoph B; Bolanos, Hannie Zomer; Al-Herz, Waleed; Kuijpers, Taco W; Petrov, Andrej A; Savic, Sinisa; Chen, Karin; Westermann-Clark, Emma; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; de Barros Dorna, Mayra; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Licciardi, Francesco; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Miano, Maurizio; Goldman, Stanton C; Raasch, Jason; Gonzalez-Granado, Luis Ignacio; Celmeli, Fatih; Baris, Safa; Abraham, Roshini S; Buchbinder, David K; Butte, Manish J; Wang, Ji-Yang; Wang, Xiaochuan; Strauss, Kevin A; Holland, Steven M; Notarangelo, Luigi D; Walter, Jolan E

Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency

RAG缺陷患者自身免疫性溶血性贫血的临床、免疫学特征、治疗和预后

Wang, Chen; Sun, Bijun; Wu, Kevin; Farmer, Jocelyn R; Ujhazi, Boglarka; Geier, Christoph B; Gordon, Sumai; Westermann-Clark, Emma; Savic, Sinisa; Secord, Elizabeth; Sargur, Ravishankar; Chen, Karin; Jin, Jay J; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Notarangelo, Luigi D; Miano, Maurizio; Buchbinder, David K; Csomos, Krisztian; Wang, Wenjie; Wang, Ji-Yang; Wang, Xiaochuan; Walter, Jolan E

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

单基因早发性淋巴增殖和自身免疫:STAT3功能获得综合征的自然史

Leiding, Jennifer W; Vogel, Tiphanie P; Santarlas, Valentine G J; Mhaskar, Rahul; Smith, Madison R; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M; Sharapova, Svetlana O; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S; Flanagan, Sarah E; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E; Allenspach, Eric; Romberg, Neil; Deane, Sean G; Prince, Benjamin T; Rose, Melissa J; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria Marluce Dos; O'Sullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa M; Chang Berger, Amy; Briggs, Tracy A; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C; Desai, Mukesh M; Fischer, Ute; Fulcher, David A; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R; Gonçalo Marques, José; Gottrand, Frédéric; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl Oswaldo; Russell, Mark A; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppänen, Mikko R J; Torgerson, Troy R; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G; Cooper, Megan A; Milner, Joshua D; Forbes Satter, Lisa R

Cytotoxic T-Lymphocyte-Associated Antigen 4 Haploinsufficiency Mimics Difficult-to-Treat Inflammatory Bowel Disease

细胞毒性T淋巴细胞相关抗原4单倍体不足可模拟难治性炎症性肠病

Constant, Brad D; Dutmer, Cullen M; Arnold, Michael A; Hall, Caroline; Abbott, Jordan K; de Zoeten, Edwin F

Pulmonary eosinophilic vasculitis with granulomas and benralizumab in children

儿童肺嗜酸性血管炎伴肉芽肿及贝那利珠单抗治疗

Hinds, Daniel M; Bloom, Jessica L; Cooper, Jennifer C; Dutmer, Cullen M; Galambos, Csaba; Weinman, Jason P; Wechsler, Michael E; Liptzin, Deborah R

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

针对临床诊断为杜博维茨综合征患者的替代基因组诊断方法

Dyment, David A; O'Donnell-Luria, Anne; Agrawal, Pankaj B; Coban Akdemir, Zeynep; Aleck, Kyrieckos A; Antaki, Danny; Al Sharhan, Hind; Au, Ping-Yee B; Aydin, Hatip; Beggs, Alan H; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A; Buyske, Steve; Chodirker, Bernard; Choi, Jungmin; Chudley, Albert E; Clericuzio, Carol L; Cox, Gerald F; Curry, Cynthia; de Boer, Elke; de Vries, Bert B A; Dunn, Kathryn; Dutmer, Cullen M; England, Eleina M; Fahrner, Jill A; Geckinli, Bilgen B; Genetti, Casie A; Gezdirici, Alper; Gibson, William T; Gleeson, Joseph G; Greenberg, Cheryl R; Hall, April; Hamosh, Ada; Hartley, Taila; Jhangiani, Shalini N; Karaca, Ender; Kernohan, Kristin; Lauzon, Julie L; Lewis, M E Suzanne; Lowry, R Brian; López-Giráldez, Francesc; Matise, Tara C; McEvoy-Venneri, Jennifer; McInnes, Brenda; Mhanni, Aziz; Garcia Minaur, Sixto; Moilanen, Jukka; Nguyen, An; Nowaczyk, Malgorzata J M; Posey, Jennifer E; Õunap, Katrin; Pehlivan, Davut; Pajusalu, Sander; Penney, Lynette S; Poterba, Timothy; Prontera, Paolo; Doriqui, Maria Juliana Rodovalho; Sawyer, Sarah L; Sobreira, Nara; Stanley, Valentina; Torun, Deniz; Wargowski, David; Witmer, P Dane; Wong, Isaac; Xing, Jinchuan; Zaki, Maha S; Zhang, Yeting; Boycott, Kym M; Bamshad, Michael J; Nickerson, Deborah A; Blue, Elizabeth E; Innes, A Micheil